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  3. PSMB10
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Autoinflammatory Disorders

Gene: PSMB10

Green List (high evidence)
PSMB10 (proteasome subunit beta 10)
EnsemblGeneIds (GRCh38): ENSG00000205220
EnsemblGeneIds (GRCh37): ENSG00000205220
OMIM: 176847, Gene2Phenotype
PSMB10 is in 3 panels

2 reviews

Peter McNaughton (Queensland Children's Hospital)

Green List (high evidence)

3 additional unrelated patients with compound heterozygous variants with structural modelling of proteasome assembly.
Created: 23 Aug 2023, 4:11 a.m. | Last Modified: 23 Aug 2023, 4:11 a.m.
Panel Version: 1.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CANDLE/PRAAS

Publications

Created: 23 Aug 2023, 4:11 a.m.
Last Modified: 23 Aug 2023, 4:11 a.m.
Panel version: 1.12

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

PSMB10 is part of the immunoproteasome, and other components cause auto inflammatory disorders. Single individual with homozygous missense variant reported.
Sources: Literature
Created: 30 Apr 2020, 7:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Proteasome-associated autoinflammatory syndrome 5, MIM# 619175; Autoinflammatory syndrome

Publications

Created: 30 Apr 2020, 7:44 a.m.

Panel version: 0.101

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Proteasome-associated autoinflammatory syndrome 5, MIM# 619175
OMIM
176847
Clinvar variants
Variants in PSMB10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Nov 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PSMB10 were set to 31783057

6 Nov 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: psmb10 has been classified as Green List (High Evidence).

18 Feb 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PSMB10 were changed from Autoinflammatory syndrome to Proteasome-associated autoinflammatory syndrome 5, MIM# 619175

30 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: psmb10 has been classified as Red List (Low Evidence).

30 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PSMB10 was added gene: PSMB10 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature Mode of inheritance for gene: PSMB10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSMB10 were set to 31783057 Phenotypes for gene: PSMB10 were set to Autoinflammatory syndrome Review for gene: PSMB10 was set to RED